PDF(Pubmed)
Abstract：
UNASSIGNED: Hypertrophic Cardiomyopathy (HCM), a widespread genetic heart disorder, is largely associated with sudden cardiac fatality. Necroptosis, an emerging type of programmed cell death, plays a fundamental role in several cardiovascular diseases.
UNASSIGNED: This research utilized bioinformatics analysis to investigate necroptosis\'s implication in HCM.
UNASSIGNED: The study retrieved RNA sequencing datasets GSE130036 and GSE141910 from the Gene Expression Omnibus (GEO) database. It detected necroptosis-linked differentially expressed genes (NRDEGs) by reviewing both the gene set for necroptosis and the differently expressed genes (DEGs). The enriched signaling pathway of HCM was assessed using GSEA, while common DEGs were studied through Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. Concurrently, the Protein-Protein Interaction network (PPI) proved useful for identifying central genes. CIBERSORT facilitated evaluating the correlation between distinct immune cell-type prevalence and NRDEGs by analyzing immune infiltration patterns. Lastly, GSE141910 dataset validated the expression ranks of NRDEGs and immune-cell penetration.
UNASSIGNED: The investigation disclosed significant enrichment and activation of the necroptosis pathway in HCM specimens. Seventeen diverse genes, including CYBB, BCL2, and JAK2 among others, were identified in the process. PPI network scrutiny classified nine of these genes as central genes. Results from GO and KEGG enrichment analyses showed substantial connections of these genes to pathways pertaining to the HIF-1 signaling track, necroptosis, and NOD-like receptor signaling process. Moreover, an imbalance in M2 macrophage cells in HCM samples was observed. Finally, CYBB, BCL2, and JAK2 emerged as vital genes and were validated using the GSE141910 dataset.
UNASSIGNED: These results indicate necroptosis as a probable underlying factor in HCM, with immune cell infiltration playing a part. Additionally, CYBB, BCL2, JAK2 could act as potential biomarkers for recognizing HCM. This information forms crucial insights into the basic mechanisms of HCM and could enhance its diagnosis and management.
UNASSIGNED: This research utilized bioinformatics analysis to investigate necroptosis\'s implication in HCM.
UNASSIGNED: The study retrieved RNA sequencing datasets GSE130036 and GSE141910 from the Gene Expression Omnibus (GEO) database. It detected necroptosis-linked differentially expressed genes (NRDEGs) by reviewing both the gene set for necroptosis and the differently expressed genes (DEGs). The enriched signaling pathway of HCM was assessed using GSEA, while common DEGs were studied through Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. Concurrently, the Protein-Protein Interaction network (PPI) proved useful for identifying central genes. CIBERSORT facilitated evaluating the correlation between distinct immune cell-type prevalence and NRDEGs by analyzing immune infiltration patterns. Lastly, GSE141910 dataset validated the expression ranks of NRDEGs and immune-cell penetration.
UNASSIGNED: The investigation disclosed significant enrichment and activation of the necroptosis pathway in HCM specimens. Seventeen diverse genes, including CYBB, BCL2, and JAK2 among others, were identified in the process. PPI network scrutiny classified nine of these genes as central genes. Results from GO and KEGG enrichment analyses showed substantial connections of these genes to pathways pertaining to the HIF-1 signaling track, necroptosis, and NOD-like receptor signaling process. Moreover, an imbalance in M2 macrophage cells in HCM samples was observed. Finally, CYBB, BCL2, and JAK2 emerged as vital genes and were validated using the GSE141910 dataset.
UNASSIGNED: These results indicate necroptosis as a probable underlying factor in HCM, with immune cell infiltration playing a part. Additionally, CYBB, BCL2, JAK2 could act as potential biomarkers for recognizing HCM. This information forms crucial insights into the basic mechanisms of HCM and could enhance its diagnosis and management.
摘要：
■肥厚型心肌病（HCM），一种广泛的遗传性心脏病,在很大程度上与心脏猝死有关。坏死,一种新兴的程序性细胞死亡，在几种心血管疾病中起着重要作用。
■这项研究利用生物信息学分析来研究坏死在HCM中的意义。
■该研究从基因表达综合(GEO)数据库检索RNA测序数据集GSE130036和GSE141910。它通过回顾坏死的基因集和不同表达的基因（DEGs）来检测坏死相关的差异表达基因（NRDEGs）。使用GSEA评估HCM的富集信号通路，而常见的DEG是通过基因本体论（GO）和京都基因和基因组百科全书（KEGG）途径进行研究的。同时,蛋白质-蛋白质相互作用网络（PPI）被证明可用于识别中心基因。CIBERSORT有助于通过分析免疫浸润模式来评估不同免疫细胞类型患病率与NRDEGs之间的相关性。最后,GSE141910数据集验证了NRDEGs和免疫细胞渗透的表达等级。
■该研究揭示了HCM标本中坏死途径的显着富集和激活。十七个不同的基因，包括CYBB,BCL2和JAK2等，在这个过程中被确认。PPI网络审查将其中9个基因归类为中心基因。GO和KEGG富集分析的结果显示，这些基因与HIF-1信号通路有实质性的联系，坏死,和NOD样受体信号传导过程。此外，观察到HCM样品中M2巨噬细胞的不平衡。最后,CYBB,BCL2和JAK2作为重要基因出现，并使用GSE141910数据集进行了验证。
■这些结果表明坏死是HCM的可能潜在因素，免疫细胞浸润发挥了作用。此外,CYBB,BCL2、JAK2可以作为识别HCM的潜在生物标志物。这些信息形成了对HCM基本机制的重要见解，并可以增强其诊断和管理。
■这项研究利用生物信息学分析来研究坏死在HCM中的意义。
■该研究从基因表达综合(GEO)数据库检索RNA测序数据集GSE130036和GSE141910。它通过回顾坏死的基因集和不同表达的基因（DEGs）来检测坏死相关的差异表达基因（NRDEGs）。使用GSEA评估HCM的富集信号通路，而常见的DEG是通过基因本体论（GO）和京都基因和基因组百科全书（KEGG）途径进行研究的。同时,蛋白质-蛋白质相互作用网络（PPI）被证明可用于识别中心基因。CIBERSORT有助于通过分析免疫浸润模式来评估不同免疫细胞类型患病率与NRDEGs之间的相关性。最后,GSE141910数据集验证了NRDEGs和免疫细胞渗透的表达等级。
■该研究揭示了HCM标本中坏死途径的显着富集和激活。十七个不同的基因，包括CYBB,BCL2和JAK2等，在这个过程中被确认。PPI网络审查将其中9个基因归类为中心基因。GO和KEGG富集分析的结果显示，这些基因与HIF-1信号通路有实质性的联系，坏死,和NOD样受体信号传导过程。此外，观察到HCM样品中M2巨噬细胞的不平衡。最后,CYBB,BCL2和JAK2作为重要基因出现，并使用GSE141910数据集进行了验证。
■这些结果表明坏死是HCM的可能潜在因素，免疫细胞浸润发挥了作用。此外,CYBB,BCL2、JAK2可以作为识别HCM的潜在生物标志物。这些信息形成了对HCM基本机制的重要见解，并可以增强其诊断和管理。
